T52S (p.Thr52Ser) variant of PTPN11 (Q06124)
T52S (p.Thr52Ser) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
T52S (p.Thr52Ser) variant details
- p.Thr52Ser
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61006
- NCI-TCGA Cosmic COSV6101
- Ensembl rs397507503
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available